Disease

Primary coenzyme Q10 deficiency 21

Gene

PDSS1

Inheritance AR
Current Treatments CoQ10 supplementation
Evidence for Treatment expert opinion
Non-Molecular Testing Availability no
Disease Frequency (per 100,000) 11
Genes Included in Disease Frequency COQ6, COQ4, COQ2, COQ7, COQ8A, COQ8B, COQ9, PDSS1, PDSS2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=coenzyme+Q10+deficiency&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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